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Single Nucleotide Polymorphism in Iodothyronine Deiodinase 2 Gene and their Association with Thyroid Hormone Levels in Schizophrenia Patients in Pakistani Population
Author(s):
1. Farina Hanif: Dow University of Health Sciences, Karachi, Pakistan
2. Quratulain Amir: Dow University of Health Sciences, Karachi, Pakistan
3. Washdev Washdev: Department of Physiology, University of Karachi, Karachi, Pakistan
Abstract:
Low triiodothyronine (T3) levels in the brain cause increased sensitivity of dopamine receptors, resulting in schizophrenia. The sole enzyme in the brain that transforms tetraiodothyronine (T4) to T3 is iodothyronine deiodinase enzyme 2 (DIO2). The DIO2 polymorphism rs225014 causes the expression of a non-functional DIO2. Therefore, we hypothesized that rs255014 is linked to schizophrenia and may impact thyroid hormone levels in the brain without affecting serum levels.Altogether 300 individuals (150 schizophrenia cases and 150 controls) were recruited. Blood was drawn to extract the genomic DNA and then followed by PCR. Amplicons were subjected to sequencing. MEGA X software was used for sequence alignment and genotyping. Serum thyroid profile was carried via chemiluminescent magnetic microparticle immunoassay. Independent sample t-test, chi square and pearson`s correlation tests were used to study the variables. Frequency of reference genotype (TT) and T allele was higher in controls (P 0.05) and severity of schizophrenia (P>0.05). Significantly higher T3 levels (P <0.001), were found in control group. Further, higher mean T3 levels were found in controls with either TT (P= 0.035) or CC (0.001) genotype subgroups as compared to the corresponding cases. DIO2, rs225014, is linked to schizophrenia and has a potential to impact brain thyroid hormone levels while having no effect on blood thyroid hormone levels. Replication studies with large sample size is recommended to confirm the effect of DIO2 polymorphism on the levels of thyroid hormones in CSF and the brain.
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Published: Journal: Abstract Book on 9th Annual Neuroscience Conference (ANC-23) August 12-13, 2023 , Volume: 0, Issue: 0, Year: 2023
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